Gene Variant Detail

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Gene PIK3CA
Variant E453K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA E453K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453K results in increased phosphorylation of Akt and Mek1/2, enhanced cell survival, increased cell proliferation and migration, and is transforming in culture (PMID: 26627007, PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA E453K

PIK3CA mutant PIK3CA exon8 PIK3CA E453K

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Transcript NM_006218.4
gDNA chr3:g.179210291G>A
cDNA c.1357G>A
Protein p.E453K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.3 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
XM_006713658 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38
NM_006218 chr3:g.179210291G>A c.1357G>A p.E453K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA E453K PIK3CA E545A stomach cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Piqray (alpelisib) inhibited growth and induced cell cycle arrest and inhibited phosphorylation of Akt and S6 in a gastric cancer cell line harboring PIK3CA E545A and E453K in culture (PMID: 37493631). 37493631
PIK3CA E453K PIK3CA E545A stomach cancer sensitive Alpelisib + Dasatinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Sprycel (dasatinib) to Piqray (alpelisib) treatment resulted in an increased inhibition of proliferation in a gastric cancer cell line harboring PIK3CA E545A and E453K in culture (PMID: 37493631). 37493631
PIK3CA E453K PIK3CA E545A stomach cancer sensitive A-1331852 + Alpelisib Preclinical - Cell culture Actionable In a preclinical study, the combination of Piqray (alpelisib) and A-1331852 synergistically inhibited viability in a gastric cancer cell line harboring PIK3CA E545A and E453K in culture (PMID: 37493631). 37493631
FGFR2 T319I PIK3CA N345K PIK3CA E453K Her2-receptor negative breast cancer predicted - resistant Inavolisib Case Reports/Case Series Actionable In a clinical case study, FGFR2 T319I was identified in circulating tumor DNA at the time of progression on Inavolisib (GDC-0077) in a patient with ESR1-positive, ERBB2 (HER2)-negative breast cancer harboring PIK3CA N345K and E453K (PMID: 37916958). 37916958
PIK3CA E453K PIK3CA H1047R estrogen-receptor positive breast cancer predicted - sensitive RLY-2608 Case Reports/Case Series Actionable In a clinical case study, treatment with RLY-2608 resulted in a partial response with a reduction in liver, lung, and soft tissue target lesions in a patient with ESR1/PGR-positive, ERBB2 (HER2)-low breast cancer harboring PIK3CA H1047R and PIK3CA E453K (PMID: 37916956; NCT05216432). 37916956